Recovering signatures of archaic introgression using ancestral recombination graphs

Neanderthal and Denisovan genomes have reshaped our understanding of archaic introgression. Yet, the limited number of archaic genomes sequenced and the reliance on unadmixed outgroups have left much of this history unresolved. We introduce TRACE, a method to identify archaic ancestry using features of ancestral recombination graphs inferred from contemporary genomes alone. Simulations show that TRACE reliably detects archaic introgression without requiring archaic genomes or unadmixed outgroups. Applied to 1000 Genomes data, TRACE recovers known Neanderthal and Denisovan introgression and reveals signals of ghost admixture from previously uncharacterized hominins in both Africans and non-Africans. Strikingly, ghost ancestry persists in Neanderthal and Denisovan ancestry deserts, challenging their interpretation as <i>Homo sapiens</i>-specific regions. In Oceanians, TRACE finds deep lineages enriched in Denisovan--and not Neanderthal--regions, supporting a model of super-archaic gene flow. TRACE provides a scalable framework for mapping the legacy of archaic introgression in the absence of archaic genome sequences.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2026-03-04
DOI
https://doi.org/10.64898/2026.03.03.709416
Primary Topic
Forensic and Genetic Research
Type
article
Field-Weighted Citation Impact
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article

Recovering signatures of archaic introgression using ancestral recombination graphs

Priya Moorjani, Colm O’Dushlaine, Yulin Zhang, Arjun Biddanda et al.
bioRxiv (Cold Spring Harbor Laboratory)
Forensic and Genetic Research
article

Recovering signatures of archaic introgression using ancestral recombination graphs

Priya Moorjani, Colm O’Dushlaine, Yulin Zhang, Arjun Biddanda, Sarah Ariana Johnson
article en

Abstract

Neanderthal and Denisovan genomes have reshaped our understanding of archaic introgression. Yet, the limited number of archaic genomes sequenced and the reliance on unadmixed outgroups have left much of this history unresolved. We introduce TRACE, a method to identify archaic ancestry using features of ancestral recombination graphs inferred from contemporary genomes alone. Simulations show that TRACE reliably detects archaic introgression without requiring archaic genomes or unadmixed outgroups. Applied to 1000 Genomes data, TRACE recovers known Neanderthal and Denisovan introgression and reveals signals of ghost admixture from previously uncharacterized hominins in both Africans and non-Africans. Strikingly, ghost ancestry persists in Neanderthal and Denisovan ancestry deserts, challenging their interpretation as <i>Homo sapiens</i>-specific regions. In Oceanians, TRACE finds deep lineages enriched in Denisovan--and not Neanderthal--regions, supporting a model of super-archaic gene flow. TRACE provides a scalable framework for mapping the legacy of archaic introgression in the absence of archaic genome sequences.

bioRxiv (Cold Spring Harbor Laboratory)
Johns Hopkins University (US), Addgene (US), University of California, Berkeley (US)
Openalex Percentile: Top 35%
Forensic and Genetic Research
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